Abstract
Aim. The aim of this study was to evaluate the role of the Lys751Gln (rs13181) ERCC2 gene polymorphism in clinical parameters and the risk for development of ovarian cancer. Material and Methods. The study consisted of 430 patients with ovarian cancer (mean age: 53.2 ± 10.11) and 430 healthy subjects (mean age: 50.31 ± 18.21). Analysis of the gene polymorphisms was performed using the PCR-based restriction fragment length polymorphism (PCR-RFLP). The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated. Results. The results obtained indicate that the genotype Gln/Gln is associated with an increased risk of ovarian cancer (OR 5.01; 95% CI 3.37–7.43; p < 0.0001). Association of Lys751Gln polymorphism with histological grading showed increased ERCC2 Gln/Gln (OR = 6.96; 95% CI 3.41–14.21; p < 0.0001) genotype in grading 1 as well as Gln allele overrepresentation (OR = 4.98; 95% CI 3.37–7.40; p < 0.0001) in G1 ovarian patients. Finally, with clinical FIGO staging under evaluation, an increase in ERCC2 Gln/Gln homozygote frequencies in staging I and Gln allele frequencies in SI were observed. Conclusion. On the basis of these results, we conclude that ERCC2 gene polymorphism Lys751Gln may be associated with an increased risk of ovarian carcinoma.
Highlights
The system of DNA repair takes part in maintaining the genomic integrity which undergoes changes under exo- and endogenous factors
An association was found between the Gln/Gln genotype of the Lys751Gln polymorphism of excision repair cross-complimentary group 2 (ERCC2) gene and ovarian cancer occurrence
Variant 751Gln allele of ERCC2 increased cancer risk
Summary
The system of DNA repair takes part in maintaining the genomic integrity which undergoes changes under exo- and endogenous factors. There were more than 130 DNA repair genes identified, in which a series of single nucleotide polymorphisms (SNPs) were discovered [1]. The variability, perceived in DNA repair genes, may be of clinical importance for evaluation of the risk of occurrence of a given type of cancer and its prophylactics and therapy. The repair process usually encompasses two stages: the excision of lesion and the repair synthesis. This is how the repair system acts via base-excision repair (BER), nucleotide excision repair (NER), and mismatch repair (MMR). Converse is the repair system activity by direct lesion reversal, in which there is merely a single-stage process with maintained integrity of the DNA phosphodiester chain and the system of recombination repair (HR)
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